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The ontogenetic development of the fovea can be seriously hindered by oculocutaneous albinism (OCA), which is characterized by a disorder of melanin synthesis. Although people of all ethnic backgrounds can be affected, no efficient treatments for OCA have been developed thus far, due partly to the lack of effective animal models. Rhesus macaques are genetically homologous to humans and, most importantly, exhibit structures of the macula and fovea that are similar to those of humans; thus, rhesus macaques present special advantages in the modeling and study of human macular and foveal diseases. In this study, we identified rhesus macaque models with clinical characteristics consistent with those of OCA patients according to observations of ocular behavior, fundus examination, and optical coherence tomography. Genomic sequencing revealed a biallelic p.L312I mutation in\n            <jats:italic>TYR<\/jats:italic>\n            and a homozygous p.S788L mutation in\n            <jats:italic>OCA2<\/jats:italic>\n            , both of which were further confirmed to affect melanin biosynthesis via\n            <jats:italic>in vitro<\/jats:italic>\n            assays. These rhesus macaque models of OCA will be useful animal resources for studying foveal development and for preclinical trials of new therapies for OCA.\n          <\/jats:p>","DOI":"10.34133\/2020\/1658678","type":"journal-article","created":{"date-parts":[[2020,3,11]],"date-time":"2020-03-11T23:45:08Z","timestamp":1583970308000},"source":"Crossref","is-referenced-by-count":14,"title":["Nonhuman Primate Model of Oculocutaneous Albinism with\n            <i>TYR<\/i>\n            and\n            <i>OCA2<\/i>\n            Mutations"],"prefix":"10.34133","volume":"2020","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8392-8482","authenticated-orcid":false,"given":"Kun-Chao","family":"Wu","sequence":"first","affiliation":[{"name":"Division of Ophthalmic Genetics, The Eye Hospital, Laboratory for Stem Cell &amp; Retinal Regeneration, Institute of Stem Cell Research, Wenzhou Medical University, Wenzhou 325027, China"},{"name":"National Center for International Research in Regenerative Medicine and Neurogenetics, National Clinical Research Center for Ocular Diseases, State Key Laboratory of Ophthalmology, Optometry and Visual Science, Wenzhou 325027China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji-Neng","family":"Lv","sequence":"additional","affiliation":[{"name":"Division of Ophthalmic Genetics, The Eye Hospital, Laboratory for Stem Cell &amp; Retinal Regeneration, Institute of Stem Cell Research, Wenzhou Medical University, Wenzhou 325027, China"},{"name":"National Center for International Research in Regenerative Medicine and Neurogenetics, National Clinical Research Center for Ocular Diseases, State Key Laboratory of Ophthalmology, Optometry and Visual Science, Wenzhou 325027China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9583-9076","authenticated-orcid":false,"given":"Hui","family":"Yang","sequence":"additional","affiliation":[{"name":"Division of Ophthalmic Genetics, The Eye Hospital, Laboratory for Stem Cell &amp; Retinal Regeneration, Institute of Stem Cell Research, Wenzhou Medical University, Wenzhou 325027, China"},{"name":"National Center for International Research in Regenerative Medicine and Neurogenetics, National Clinical Research Center for Ocular Diseases, State Key Laboratory of Ophthalmology, Optometry and Visual Science, Wenzhou 325027China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng-Mei","family":"Yang","sequence":"additional","affiliation":[{"name":"Institute of Medical Biology, Chinese Academy of Medical Sciences, And Peking Union Medical College (CAMS &amp; PUMC), Yunnan Key Laboratory of Vaccine Research Development on Severe Infectious Disease, Kunming 650118, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Lin","sequence":"additional","affiliation":[{"name":"Division of Ophthalmic Genetics, The Eye Hospital, Laboratory for Stem Cell &amp; Retinal Regeneration, Institute of Stem Cell Research, Wenzhou Medical University, Wenzhou 325027, China"},{"name":"National Center for International Research in Regenerative Medicine and Neurogenetics, National Clinical Research Center for Ocular Diseases, State Key Laboratory of Ophthalmology, Optometry and Visual Science, Wenzhou 325027China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Lin","sequence":"additional","affiliation":[{"name":"Division of Ophthalmic Genetics, The Eye Hospital, Laboratory for Stem Cell &amp; Retinal Regeneration, Institute of Stem Cell Research, Wenzhou Medical University, Wenzhou 325027, China"},{"name":"National Center for International Research in Regenerative Medicine and Neurogenetics, National Clinical Research Center for Ocular Diseases, State Key Laboratory of Ophthalmology, Optometry and Visual Science, Wenzhou 325027China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9426-9796","authenticated-orcid":false,"given":"Ren-Juan","family":"Shen","sequence":"additional","affiliation":[{"name":"Division of Ophthalmic Genetics, The Eye Hospital, Laboratory for Stem Cell &amp; Retinal Regeneration, Institute of Stem Cell Research, Wenzhou Medical University, Wenzhou 325027, China"},{"name":"National Center for International Research in Regenerative Medicine and Neurogenetics, National Clinical Research Center for Ocular Diseases, State Key Laboratory of Ophthalmology, Optometry and Visual Science, Wenzhou 325027China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun-Bin","family":"Wang","sequence":"additional","affiliation":[{"name":"Institute of Medical Biology, Chinese Academy of Medical Sciences, And Peking Union Medical College (CAMS &amp; PUMC), Yunnan Key Laboratory of Vaccine Research Development on Severe Infectious Disease, Kunming 650118, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Hua","family":"Duan","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, The Second People\u2019s Hospital of Yunnan Province, Fourth Affiliated Hospital of Kunming Medical University, Key Laboratory of Yunnan Province for the Prevention and Treatment of Ophthalmology, Kunming 650021, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, The Second People\u2019s Hospital of Yunnan Province, Fourth Affiliated Hospital of Kunming Medical University, Key Laboratory of Yunnan Province for the Prevention and Treatment of Ophthalmology, Kunming 650021, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Zhang","sequence":"additional","affiliation":[{"name":"National Center for International Research in Regenerative Medicine and Neurogenetics, National Clinical Research Center for Ocular Diseases, State Key Laboratory of Ophthalmology, Optometry and Visual Science, Wenzhou 325027China"},{"name":"Laboratory of Retinal Physiology &amp; Disease, The Eye Hospital, Wenzhou Medical University, Wenzhou 325027, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5379-2521","authenticated-orcid":false,"given":"Zhan-Long","family":"He","sequence":"additional","affiliation":[{"name":"Institute of Medical Biology, Chinese Academy of Medical Sciences, And Peking Union Medical College (CAMS &amp; PUMC), Yunnan Key Laboratory of Vaccine Research Development on Severe Infectious Disease, Kunming 650118, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0515-698X","authenticated-orcid":false,"given":"Zi-Bing","family":"Jin","sequence":"additional","affiliation":[{"name":"Division of Ophthalmic Genetics, The Eye Hospital, Laboratory for Stem Cell &amp; Retinal Regeneration, Institute of Stem Cell Research, Wenzhou Medical University, Wenzhou 325027, China"},{"name":"National Center for International Research in Regenerative Medicine and Neurogenetics, National Clinical Research Center for Ocular Diseases, State Key Laboratory of Ophthalmology, Optometry and Visual Science, Wenzhou 325027China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"221","published-online":{"date-parts":[[2020,3,11]]},"reference":[{"issue":"2","key":"e_1_3_4_1_2","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1152\/physrev.1991.71.2.447","article-title":"Functional architecture of the mammalian retina","volume":"71","author":"Wassle H.","year":"1991","unstructured":"H. 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